ERG campimetry using a multi-input stimulation technique for mapping of retinal function in the central visual field

The m-sequence stimulation technique that has previously been described allows simultaneous recording of many local electroretinograms (ERGs). For topographical mapping of cone function in the central retina ERG traces from 61 retinal areas were recorded during a 4-min period in 20 normal volunteers and 4 patients with age-related macular degeneration, Stargardt's disease, choroidal atrophy, and polymyalgia associated with visual field loss. The local photopic luminance response was analyzed in each of the 61 areas. In the 2 patients with macular disease central defects were detected, in the remaining patients local defects were found outside the macular region. The method of multifocal ERG recordings provides the possibility of objective testing of visual fields when the outer retinal layers are affected.     

Retinal functions in dominant cystoid macular dystrophy (DCMD)

Dominant cystoid macular dystrophy (DCMD) occurred in 28 members of 5 unrelated families. The disease is characterized by cystoid macular oedema and leakage from retinal capillaries in the posterior pole. Colour vision examination reveals a type I red-green defect with concomitant blue-yellow defectiveness; the latter may be caused by the leaking capillaries. The ERG is normal. The EOG is subnormal. Darkadaptation curves are often slightly disturbed. There are frequently also aspecific pigmentary alterations in the peripheral fundus.     

Clinical picture and therapy of hypertrophic cardiomyopathy

Although central vision in Stargardt's disease is impaired relatively early, peripheral function is usually little affected and patients do not lose all vision. We report 4 patients with bull's-eye macular dystrophy that is indistinguishable from Stargardt's disease/fundus flavimaculatus, but with very depressed peripheral retinal function. One patient had bull's-eye maculopathy with a dark choroid on the fluorescein angiogram with a normal peripheral fundus and good retinal function initially. Sixteen years later, however, peripheral bone corpuscle pigmentation and optic disc atrophy developed and the electroretinogram became nonrecordable. Three patients from another family also had peripheral pigment degeneration besides macular degeneration. These cases may represent a rare combination of Stargardt's disease and retinitis pigmentosa. However, there was no clinical sign or even suggestion of retinitis pigmentosa at the initial examination in 1 patient. The mode of inheritance in 3 of our patients is probably autosomal recessive.     

Role of electroretinography in the prognosis of central retinal vein occlusion

The aim of the study is to evaluate the role of electroretinography in diagnosis of central retinal vein occlusion CRVO. There are two forms of this entity, each of them having a different prognosis. While haemorrhagic form has a better outcome, with fairly good prognosis for vision, ischaemic form usually develops many complications: macular oedema, neovascularisation of the retina or optic disk, neovascular glaucoma, and possible blindness. Three months after the onset, when oedema and retinal haemorrhages are usually resolved, it is possible to perform fundus fluorescein angiography (FFA) and make differentiation between the two forms of the disease. However, neovascular glaucoma may challenge the vision even before the diagnosis of ischaemic form becomes possible by observing the fundus or by performing FFA. Trying to foresee the course of the disease, and thus to help a patient with panretinal photocoagulation, we performed electroretinography (ERG) in each patient just after the onset of the disease. The prospective study included 40 patients with CROV which lasted less than three months and without any complication. Two parameters were examined: scotopic "b" wave and photopic b/a ration. By ERG action potentials from the retina after its stimulation with light, are recorded. Scotopic "b" wave generates in bipolar layer from Muller's and bipolar cells. Photopic b/a ratio is a ration of two waves, "b" and "a" in photopic conditions and is a good indicator of saturation of the retina with blood and oxygen. Visual acuity, applanation tonometry, examination of the fundus after dilatation of pupils with Sol. Mydriacili were performed in each patient. Each patient was examined by ERG in scotopic and photopic conditions. The results were as follows: Scotopic b wave per se could not indicate potential complications, while b/a ratio was a good predictor of possible complications when its value was less than 1.25. CONCLUSION: Electroretinography, which can be performed at any time after the onset of the disease may be a good indicator of retinal perfusion and oxygen saturation, by giving the ratio of b and a waves under photopic conditions. The status of Muller's cells and bipolar cells is reflected in the scotopic b wave. In a prospective study forty patients with CRVO of less than three months duration and without neovascularisation were studied with the use of ERG, both in scotopic and photopic conditions. Our results suggest that the b/a ratio may be a good predictor of the development of retinal, disk and iris neovascularisation by showing the degree of retinal ischaemia, while the scotopic b wave cannot be used for such evaluation. Predicting the new vessel development by ERG may save the useful vision and prevent a disastrous outcome, blinding and painful neovascular glaucoma by performing panretinal photocoagulation.     

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

OBJECTIVE: To provide the first measures of the relative rates of rod and cone functional loss in patients with retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). DESIGN: Five-year, prospective natural history study. PARTICIPANTS: Ninety-six patients (67 with RP and 29 with CRD) retaining measurable rod-mediated visual function and 5 normal subjects were tested at baseline and annually for 4 consecutive years. MAIN OUTCOME MEASURES: Tests of visual function included visual acuity, dark-adaptation thresholds, dark-adapted static perimetry, and rod and cone computer-averaged electroretinograms (ERGs), which were obtained over a range of retinal illuminances. Intervisit variability for each measure was obtained in a subset of patients who were tested twice within a 2-month interval and was used to determine whether an individual patient had shown progression, regression, or no change over a particular study interval. RESULTS: Over a 4-year interval, a significant number of patients with RP (60%) and CRD (62%) showed a decline in cone ERG amplitude. For rod ERG amplitude, the percentage of patients with RP or CRD showing progression was 64% and 45%, respectively. Although visual acuity, dark-adapted threshold, and rod visual field area also declined significantly over the 4-year period, the mean rate of change and the numbers of patients showing progression on these measures were lower than those for ERG measures. On specialized ERG testing, the yearly change in rod ERG threshold in RP was greater than the yearly change in cone ERG threshold, and the rate of progression varied significantly among inheritance types. For patients with CRD, the yearly change in rod threshold was comparable to the yearly change in cone ERG threshold. CONCLUSIONS: This study helps to define the natural progression of rod-mediated and cone-mediated functional loss in patients with RP and CRD.     

Difficulty in performing everyday activities in patients with juvenile macular dystrophies: comparison with patients with retinitis pigmentosa

AIMS: To ascertain the level of perceived difficulty experienced by patients with central vision loss due to juvenile macular dystrophies in the performance of everyday activities. A second objective was to compare their perceived difficulty with that of patients with retinitis pigmentosa (RP) with primarily peripheral vision loss. METHODS: 72 patients with Stargardt disease, cone dystrophy, or cone-rod dystrophy who had visual acuities worse than 20/40 and normal peripheral visual fields rated themselves on their difficulty in the performance of 33 activities encompassing a wide variety of everyday tasks. These findings were compared with the responses of 120 patients with typical RP or Usher syndrome type 2 who had visual acuities of 20/40 or better and peripheral visual field loss. RESULTS: The juvenile macular dystrophy group reported the greatest level of overall self perceived difficulty with activities involving central vision, and lesser and variable degrees of difficulty with items within the mobility, negotiating steps, driving, and miscellaneous categories. Consistent with these findings, there were highly significant correlations between subjects' rated performances of activities involving central vision and the clinical measures of vision, including visual acuity and size of central scotoma. There were fewer significant correlations between perceived performance of activities in the other categories and the clinical measures. In general, those activities that showed significant correlations with the clinical measures of vision for the patients with juvenile macular dystrophies also showed significant differences in the patterns of responses between the juvenile macular dystrophy group and the RP group. Those items which were not correlated with the clinical measures in the juvenile macular dystrophy group tended not to show significant differences in the response patterns between the two groups. CONCLUSION: These results provide insight into the types of perceived difficulties in performing tasks of everyday life in patients with these disorders which affect counselling of these patients.     

Morphologic changes in age-related maculopathy

Age-related maculopathy (ARM) is a degenerative disorder of the central part of the retina with a rising prevalence in patients 50 years of age and older, and comprises different histopathological changes. The morphologic changes in ARM are described and illustrated with light-microscopical, electron microscopical, and fundus pictures. Furthermore, the most important biochemical data are given. The most prominent aging changes in early stages of ARM are drusen and basal laminar deposit (BLD), both extracellular deposits, that are assumed to be important in the development of ARM. Drusen accumulate within Bruch's membrane, whereas BLD is present between Bruch's membrane and the retinal pigment epithelium. Although the histopathologic characteristics of the deposits are well documented, the chemical composition has only been partly resolved. Biochemical analysis of these deposits is necessary to determine the source of the deposits and to find possible ways to avoid or treat them. The late stages of ARM, geographic atrophy, and neovascular (disciform) degeneration, are called age-related macular degeneration (AMD), and result in severe and irreversible visual impairment. Since there is still no adequate therapy for the majority of people disabled by AMD, and because of the aging population resulting in even more patients with this disease, it is necessary to intensify the research on ARM in order to prevent AMD or find a therapy for it.     

Photoreceptor loss in age-related macular degeneration

PURPOSE: The authors showed previously that parafoveal rods, but not cones, decrease during the course of adulthood in donor eyes that were screened to exclude the grossly visible macular drusen and pigmentary disturbances typical of age-related macular degeneration (AMD). Because AMD begins in the parafovea, this selective loss of rods actually may be subclinical AMD not yet visible in the fundus. If so, AMD must have a predilection for rods over cones. The authors tested this hypothesis by determining the relative numbers of cones and rods in donor eyes with mid-to late-stage AMD and in age-matched controls. METHODS: Thirteen eyes (from seven donors) with grossly visible macular drusen and pigmentary disturbances were either wholemounted for photoreceptor counts or sectioned through the fovea for histopathology and carbonic anhydrase histochemistry to label red-green cones. Eyes were assigned to AMD or control groups on the basis of histopathology and clinical history. RESULTS: Five nonexudative AMD (NE-AMD) eyes from three donors showed sparing of foveal cones and loss of rods and cones in the parafovea. In two donors, rod loss exceeded cone loss at most parafoveal locations, and in one donor, rod density was normal and cone density was reduced. In eight exudative AMD (EX-AMD) eyes from five donors, photoreceptors surviving along the margins of and overlying disciform scars were largely cones. CONCLUSIONS: Photoreceptors are lost in NE-AMD as well as in the more severe exudative form, consistent with functional and clinical studies. The authors propose that rods die in older eyes without evidence of overt retinal pigment epithelial disease. In persons susceptible to AMD, the retinal pigment epithelium becomes dysfunctional. Secondarily, rod loss continues and cones begin to degenerate. Eventually, only degenerate cones remain; ultimately, all photoreceptors may disappear.     

Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome

PURPOSE: To evaluate rod and cone function in individuals with the Laurence-Moon-Bardet-Biedl syndrome. METHODS: We obtained a full-field electroretinograms in 36 patients. If responses less than 10 microV were recorded with single white flashes a special techniques with narrow band filter and computer averaging was used. RESULTS: No rod responses to dim blue light could be obtained in any of the patients. Residual cone flicker responses were measurable in 28 of the individuals. Those with amplitudes < 0.05 microV were significantly older than those with amplitudes > 1.00 microV. The ERG pattern was consistent within affected pairs of siblings in 8 families. CONCLUSION: The retinal dystrophy in Laurence-Moon-Bardet-Biedl syndrome is primarily a rod-cone dystrophy, but even cone flicker amplitudes are severely reduced with further progression with age. There is no intrafamilial variability of the electroretinograms in affected siblings.     

Case-control study of the risk factors for age related macular degeneration. France-DMLA Study Group

AIM: A case-control study was initiated to determine the risk factors for the development of age related macular degeneration (AMD). METHODS: Study participants, who were all white, aged 50-85 years, and were recruited from private ophthalmology practices. Each practitioner enrolled patients with bilateral AMD, who were then matched with controls for sex and age. Environmental factors and systemic and ocular histories were screened. All patients had bilateral red-free fundus photographs and fluorescein angiography. Photographs were classified into pigment epithelium alterations, drusen, geographic atrophy, and exudative AMD. Statistical analysis included the identification of risk factors for AMD. A multivariate analysis was performed at the end of the study. Analysis included the entire study population and was carried out for each stage of AMD. RESULTS: 1844 controls were compared with 1844 patients with AMD. Mean age was 71 years for controls and 72 for cases. Logistic regression identified six major risk factors for AMD (whole population): arterial hypertension (odds ratio (OR) = 1.28), coronary disease (OR = 1.31), hyperopia (OR = 1.33), light coloured irises (OR = 1.22), and lens opacities or previous cataract surgery (OR = 1.55). The significance of vascular risk factors was increased for late stages of AMD, especially the atrophic forms (coronary disease, OR = 3.19). CONCLUSIONS: This large case-control study confirms some of the risk factors previously identified and may contribute to the determination of methods for prevention of AMD.     

Cone b-wave implicit time as an early predictor of rubeosis in central retinal vein occlusion

PURPOSE: To investigate the predictive value of the cone b-wave implicit time in the 30-Hz flicker electroretinogram for rubeosis in the acute phase of central retinal vein occlusion. METHODS: In a prospective study, 25 patients (25 eyes) with a central retinal vein occlusion of less than 14 days' duration were examined with electroretinography and followed up for a minimum of 18 months. RESULTS: The cone b-wave implicit time in the eyes that developed rubeosis (n = 11) was more than 37.1 milliseconds and in the eyes that did not develop rubeosis (n = 14), less than 37 milliseconds (P < .00001). CONCLUSION: The cone b-wave implicit time in the 30-Hz flicker electroretinogram is a good predictor of rubeosis at an early stage in eyes with central retinal vein occlusion.     

The triple flash electroretinogram and its significance in macular diseases. B-wave recovery as a diagnostic tool

PURPOSE: The purpose of this study was to evaluate recovery data for the b-wave of the electroretinogram (ERG) elicited using multiple flash stimulation with increasing stimulus intervals in normal controls and in patients with macular diseases. The results will describe effects of age and macular disease and define indexes characterizing the recovery process. METHODS: Scotopic Ganzfeld flash ERGs were elicited using interstimulus intervals of 140, 280, and 560 ms. Relative b-waves were calculated as the ratio b140 ms/b560 ms and b280 ms/b560 ms, respectively. Responses obtained in 134 eyes of 134 normal controls served as reference data. Fifty-four patients with different macular diseases were also examined and their data compared to the reference data. RESULTS: Relative b-wave amplitudes correlated with interstimulus interval and with flash luminance, but not with age. All patients had a normal ERG when recorded following the standard of clinical electroretinography. A sigmoidal model was suggested, providing three indexes characterizing the b-wave recovery process. Relative b-waves and recovery indexes varied in age-related macular degeneration, central serous retinopathy, vitelliform macular degeneration, Stargardt's disease, and pattern dystrophy. CONCLUSION: The triple flash ERG reflects energy-yielding and -utilizing mechanisms. It proved to be more sensitive in detecting functional lesions in macular diseases than the standardized explorating procedure. The b-wave recovery model allows differentiation between two independent mechanisms contributing to the b-wave recovery process. One or more of the three characterizing indexes are affected in different macular diseases.     

A report of the quantitative determination of relative afferent pupillary defect in central retinal vein occlusion

Relative afferent pupillary defect (RAPD) indicates injury to the afferent pupillary nerve fibers anterior to the optic chiasma. The light attenuator composed of 2 optical polarizers was utilized to determine the RAPD quantitatively in 32 cases of central retinal vein occlusion (CRVO). In 13 cases with ischemic CRVO, 77% manifested an RAPD of 0.9 log unit or over and none less than 0.75 log unit. In contrast, among 19 cases with non-ischemic CRVO, 84% showed an RAPD of 0.65 log unit or less and none over 0.75 log unit, suggesting that RAPD was a sensitive index for differentiating ischemic from non-ischemic CRVO.     

Responses of ganglion cells to contrast steps in the light-adapted retina of the tiger salamander

PURPOSE: To evaluate the complications of laser-induced chorioretinal venous anastomosis in nonischemic central retinal vein occlusion (CRVO) and to identify the associated risks. METHODS: A retrospective consecutive series of 91 eyes (91 patients) with nonischemic CRVO with a mean +/- SD duration of 15.0 +/- 15.2 weeks (range, 3 to 72 weeks )and corrected visual acuity reduced to 20/100 or less because of perfused macular edema were reviewed. All eyes had one or more anastomotic attempts using argon laser (combined with Nd-YAG laser in 46 eyes) and a minimum of 12 months of follow-up. RESULTS: Successful chorioretinal venous anastomoses were created in 49 eyes (54%). Eighteen eyes (20%) had neovascular complications. These consisted of intravitreal, intraretinal, and subretinal neovascular membranes and were significantly associated with retinal ischemia (P < .001). There was avascular fibrous tissue proliferation at the anastomotic site in eight eyes (9%), and it was not associated with retinal ischemia (P = .727). No eye developed further capillary nonperfusion once an anastomosis became functional. A chorioretinal venous anastomosis was associated with improved vision (P < .001); 84% of eyes had an average +/- SD improvement of 4.3 +/- 3.8 lines (range, 2 to 20 lines), with the remaining 16% having no improvement or reduced vision. CONCLUSION: The major vision-threatening complication of laser-induced chorioretinal venous anastomosis for nonischemic CRVO is neovascular membranes occurring at the anastomotic site; these are associated with retinal ischemia. Prompt laser photocoagulation to areas of retinal ischemia that develop after the anastomotic attempt has been made may reduce the risk and severity of this complication.     

Evaluation of fluorodeoxyglucose positron emission tomography in the management of soft-tissue sarcomas

OBJECTIVE: This study aimed to determine whether clinical tests of ocular function and macular appearance independently can help to predict which patients with unilateral neovascular age-related macular degeneration (AMD) will have a choroidal neovascular membrane (CNVM) develop in their fellow eye. DESIGN: The study design was a prospective cohort study. PARTICIPANTS: One hundred twenty-seven patients with unilateral neovascular AMD observed for up to 4.5 years participated. INTERVENTION: Functional measurements included visual acuity, macular visual field, glare recovery time, and foveal electroretinogram amplitude and implicit time. MAIN OUTCOME MEASURE: The age-adjusted proportion of patients having a CNVM develop over follow-up assessed by the Cox proportional hazards model with stepwise selection was measured. RESULTS: On average, 8.8% of patients had a CNVM develop each year. Independent risk factors for the fellow eye were its glare recovery time in minutes (relative risk = 1.30, confidence interval = 1.10-1.54, P = 0.003) and its extent of visible macular abnormalities on a four-point scale (relative risk = 1.62, confidence interval = 1.06-2.59, P = 0.03). Of the fellow eyes that converted, the interval to have a CNVM develop was inversely related to the foveal electroretinogram implicit time. CONCLUSIONS: A slower recovery from glare and more extensive funduscopic changes appear to be independent risk factors for the development of a CNVM in the fellow eyes of patients with unilateral neovascular AMD. A slower foveal electroretinogram implicit time may be a sign of early stage CNVM development, perhaps because of outer retinal ischemia. These results have clinical management implications, particularly for those patients at high risk of having a potentially treatable form of AMD develop.     

Foveal dysfunction and central visual field loss in glaucoma

OBJECTIVE: To determine whether foveal function distal to the ganglion cell layer is an independent predictor of central visual field function in glaucoma. SETTING: University affiliated hospital and private practice. PARTICIPANTS: Twenty-seven eyes (27 patients) with normal-pressure glaucoma, 10 eyes (10 patients) with primary open-angle glaucoma, and 47 eyes of 47 matched normal volunteers. INTERVENTION AND MAIN OUTCOME MEASURES: Foveal cone electroretinogram (ERG) amplitude, relative optic cup to disc area and their relations to Humphrey full-threshold 30-2 visual field central 4-point mean total deviation (C4MTD) and pattern deviation (C4MPD). RESULTS: Foveal cone ERG amplitude was subnormal in 14 (37.8%) of the 37 glaucomatous eyes and lower in the glaucoma group compared with normal eyes (P<.01). The C4MTD and C4MPD were lower in glaucomatous eyes with subnormal amplitudes compared with those with normal amplitudes (P<.01 and P<.05, respectively). Amplitude was directly correlated with C4MTD (P<.01) and C4MPD (P<.01). Relative optic cup to disc area was inversely correlated with C4MTD (P<.001) and C4MPD (P<.001). Partial correlation analysis revealed that amplitude and relative optic cup to disc area were independent predictors of C4MTD and C4MPD. CONCLUSION: Foveal function distal to the ganglion cell layer and optic disc cupping independently predict central visual field function in glaucoma.     

Cone-rod dystrophy with serpentine-like retinal deposits

OBJECTIVE: To describe the clinical and electrophysiologic findings in a novel retinal dystrophy. METHODS: Ophthalmologic and electrophysiologic examinations were performed in 3 affected members of 1 family: a 10-year-old girl, her 30-year-old mother, and her 59-year-old maternal grandfather. Electro-oculography (EOG) and electroretinography (ERG) were performed according to the standards of the International Society for Clinical Electrophysiology of Vision. RESULTS: In all 3 family members, gray, serpentine-like deposits were seen at the level of the retinal pigment epithelium (RPE). These were most distinct in the child, less prominent in her mother, and barely visible in the grandfather. Visual acuity was 20/25 OU in the child and 20/200 OU in both adults. Visual field testing showed normal outer limits and small paracentral scotomas in both adults. Electroretinographic recording revealed slightly reduced amplitudes in the 10-year-old girl, cone dysfunction in her mother, and cone-rod dysfunction in the grandfather. Multifocal ERG responses were reduced but recordable in the mother. The EOG light peak amplitude was normal in both females and borderline in the grandfather. The light peak was delayed in all 3 patients. CONCLUSIONS: Similar deposits at the level of the RPE have not been described in other inherited retinal dystrophies. This family appears to have a novel form of cone-rod dystrophy with deposits at the level of the RPE and probable autosomal dominant inheritance.     

Visual impairment in Swedish children. III. Diagnoses

PURPOSE: To gain an overview of the spectrum of diagnoses among Swedish visually impaired children. METHODS: An epidemiological study of all known visually impaired children was made by review of medical records. RESULTS AND CONCLUSION: In all we found 2373 children, 0-19 years of age, with an age-specific prevalence of 10.9/10,000. The two largest diagnostic groups included neuro-ophthalmological and retinal diseases. The most frequent disorders were cerebral visual impairment, non-hereditary optic atrophy, retinal dystrophy (when regarded as a general entity), congenital hypoplasia of the optic nerve and congenital cataract. Nystagmus secondary to brain disorder, albinism, congenital nystagmus, retinopathy of prematurity and high myopia were also found in a considerable number of patients. The leading diagnoses in children with WHO-defined childhood blindness were non-hereditary optic atrophy, cerebral visual impairment and retinopathy of prematurity. A large proportion of the children, especially in the groups with neuro-ophthalmological disorders and malformations of the posterior segment had additional impairments, emphasizing the importance of a multi-disciplinary approach when assessing multi-handicapped children.     

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy

OBJECTIVE: The purpose of the study was to determine the nature and course of ophthalmic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a recently discovered disorder of mitochondrial fatty acid beta-oxidation. STUDY DESIGN: The study design was a cohort (case series). PARTICIPANTS: A retrospective review of the records of 15 children who had died during their first 2 years was performed. Also performed were a longitudinal reanalysis and cross-sectional clinical examination of four long-term survivors aged 5 to 31 years. MAIN OUTCOME MEASURES: Visual acuity, refraction, visual fields, ophthalmoscopy, fluorescein angiography, biometry, corneal topography, electroretinography (ERG), visual-evoked potentials (VEPs), color vision, and dark adaptation were measured. RESULTS: In seven children, ophthalmoscopic findings were within normal limits at 3 days to 13 months of age (median, 4.8 months). In 11 children, a granular retinal pigment epithelium (RPE), with or without pigment clumping in the macula, was seen at 4 months to 5 years of age (median, 9 months). Two long-term survivors, 16 and 31 years of age, eventually had circumscribed atrophy of the choroid, RPE, and retina, which coincided with a posterior staphyloma type 1. They had progressive axial myopia starting at 6 and 12 years of age and later paracentral scotomas leading to poor central vision. They suffered from early difficulty with mesopic vision, glare, and a severe generalized color vision deficiency that started as a tritanomaly. A third survivor was mildly myopic at 5 years of age. All four surviving patients had visually insignificant, flake-like supranuclear opacities in the lens. The ERG initially was normal but deteriorated during the first decade and later was unrecordable. The VEP responses remained fairly normal. Initially, angiography showed no blockade of the choroidal fluorescence because of the thin RPE. Filling of choroidal vessels was delayed, and the choriocapillaris and, later, larger choroidal vessels in the posterior pole became nonperfused. CONCLUSIONS: In LCHAD deficiency, the fundus is normal at birth (stage 1). Soon, however, pigment dispersion occurs in the RPE (stage 2), followed by circumscribed chorioretinal atrophy, occlusion of choroidal vessels, and deterioration of central vision, often with relative sparing of the peripheral fundus (stage 3). Finally, posterior staphylomas and central scotomas may develop (stage 4). Developmental cataract, progressive myopia, and deterioration of visual fields and color vision are new findings in LCHAD deficiency. The chorioretinopathy and abnormal ERG precede the development of myopia and posterior staphyloma, which, in turn, coincide with the loss of macular vision. The authors postulate that the RPE or choriocapillaris is primarily affected. Awareness of the characteristic ocular features is important because of an opportunity for dietary treatment, genetic counseling, and prenatal diagnosis.